Incidental Mutation 'R6356:Ppfibp2'
ID |
513014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppfibp2
|
Ensembl Gene |
ENSMUSG00000036528 |
Gene Name |
PTPRF interacting protein, binding protein 2 (liprin beta 2) |
Synonyms |
liprin beta 2, Cclp1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6356 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107280976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 96
(V96A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
[ENSMUST00000208956]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040056
AA Change: V96A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000042574 Gene: ENSMUSG00000036528 AA Change: V96A
Domain | Start | End | E-Value | Type |
Pfam:Integrase_DNA
|
192 |
256 |
3.4e-24 |
PFAM |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
SAM
|
561 |
628 |
1.86e-12 |
SMART |
SAM
|
633 |
699 |
4.07e-9 |
SMART |
SAM
|
721 |
793 |
9.22e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098134
AA Change: V96A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000095738 Gene: ENSMUSG00000036528 AA Change: V96A
Domain | Start | End | E-Value | Type |
PDB:3QH9|A
|
185 |
265 |
2e-26 |
PDB |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
SAM
|
550 |
617 |
1.86e-12 |
SMART |
SAM
|
622 |
688 |
4.07e-9 |
SMART |
SAM
|
710 |
782 |
9.22e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208956
AA Change: V96A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
possibly damaging |
Het |
|
Other mutations in Ppfibp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:Ppfibp2
|
APN |
7 |
107,308,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00429:Ppfibp2
|
APN |
7 |
107,296,801 (GRCm39) |
missense |
probably benign |
0.18 |
IGL00785:Ppfibp2
|
APN |
7 |
107,337,094 (GRCm39) |
missense |
probably benign |
|
IGL00821:Ppfibp2
|
APN |
7 |
107,329,083 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01295:Ppfibp2
|
APN |
7 |
107,346,746 (GRCm39) |
unclassified |
probably benign |
|
IGL01361:Ppfibp2
|
APN |
7 |
107,343,508 (GRCm39) |
splice site |
probably null |
|
IGL02115:Ppfibp2
|
APN |
7 |
107,338,525 (GRCm39) |
unclassified |
probably benign |
|
IGL02323:Ppfibp2
|
APN |
7 |
107,337,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02458:Ppfibp2
|
APN |
7 |
107,342,171 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02731:Ppfibp2
|
APN |
7 |
107,345,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03343:Ppfibp2
|
APN |
7 |
107,337,126 (GRCm39) |
nonsense |
probably null |
|
R0142:Ppfibp2
|
UTSW |
7 |
107,343,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Ppfibp2
|
UTSW |
7 |
107,328,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Ppfibp2
|
UTSW |
7 |
107,337,806 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1374:Ppfibp2
|
UTSW |
7 |
107,285,195 (GRCm39) |
splice site |
probably benign |
|
R1668:Ppfibp2
|
UTSW |
7 |
107,329,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Ppfibp2
|
UTSW |
7 |
107,339,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R1830:Ppfibp2
|
UTSW |
7 |
107,236,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Ppfibp2
|
UTSW |
7 |
107,345,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Ppfibp2
|
UTSW |
7 |
107,338,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R2929:Ppfibp2
|
UTSW |
7 |
107,296,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R3777:Ppfibp2
|
UTSW |
7 |
107,328,396 (GRCm39) |
missense |
probably benign |
0.00 |
R3778:Ppfibp2
|
UTSW |
7 |
107,328,396 (GRCm39) |
missense |
probably benign |
0.00 |
R4839:Ppfibp2
|
UTSW |
7 |
107,342,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4879:Ppfibp2
|
UTSW |
7 |
107,328,390 (GRCm39) |
missense |
probably benign |
0.01 |
R5643:Ppfibp2
|
UTSW |
7 |
107,337,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R5773:Ppfibp2
|
UTSW |
7 |
107,285,079 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6255:Ppfibp2
|
UTSW |
7 |
107,280,969 (GRCm39) |
missense |
probably damaging |
0.96 |
R6843:Ppfibp2
|
UTSW |
7 |
107,326,938 (GRCm39) |
missense |
probably benign |
0.00 |
R6889:Ppfibp2
|
UTSW |
7 |
107,337,188 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7051:Ppfibp2
|
UTSW |
7 |
107,316,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Ppfibp2
|
UTSW |
7 |
107,322,187 (GRCm39) |
critical splice donor site |
probably null |
|
R7654:Ppfibp2
|
UTSW |
7 |
107,337,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R7678:Ppfibp2
|
UTSW |
7 |
107,315,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R7895:Ppfibp2
|
UTSW |
7 |
107,320,524 (GRCm39) |
splice site |
probably null |
|
R8385:Ppfibp2
|
UTSW |
7 |
107,296,894 (GRCm39) |
missense |
probably benign |
0.44 |
R8434:Ppfibp2
|
UTSW |
7 |
107,327,957 (GRCm39) |
critical splice donor site |
probably null |
|
R8691:Ppfibp2
|
UTSW |
7 |
107,346,785 (GRCm39) |
missense |
probably damaging |
0.99 |
R8695:Ppfibp2
|
UTSW |
7 |
107,285,063 (GRCm39) |
splice site |
probably benign |
|
R8700:Ppfibp2
|
UTSW |
7 |
107,345,602 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8755:Ppfibp2
|
UTSW |
7 |
107,343,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Ppfibp2
|
UTSW |
7 |
107,337,525 (GRCm39) |
nonsense |
probably null |
|
R9182:Ppfibp2
|
UTSW |
7 |
107,308,053 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9355:Ppfibp2
|
UTSW |
7 |
107,322,169 (GRCm39) |
missense |
probably benign |
0.00 |
R9545:Ppfibp2
|
UTSW |
7 |
107,337,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R9688:Ppfibp2
|
UTSW |
7 |
107,318,448 (GRCm39) |
missense |
probably benign |
0.02 |
RF022:Ppfibp2
|
UTSW |
7 |
107,296,817 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ppfibp2
|
UTSW |
7 |
107,342,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACACCTTTTAGTGGCATGTGG -3'
(R):5'- TGTGCAGAGGTAGATGCTCG -3'
Sequencing Primer
(F):5'- CATGTGGTCTGGTTCTCTGAATTATC -3'
(R):5'- AGGTAGATGCTCGGCAGC -3'
|
Posted On |
2018-04-27 |